Mutagenetix > Incidental Mutation

Incidental Mutation 'R8806:Cbx1'

672085

Institutional Source

Beutler Lab

Gene Symbol

Cbx1

Ensembl Gene

ENSMUSG00000018666

Gene Name

chromobox 1

Synonyms

Hp1beta, E430007M08Rik, MOD1, Cbx-rs2, M31, HP1B

MMRRC Submission

068612-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8806 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

96679953-96699466 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 96692383 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 90 (D90G)

Ref Sequence

ENSEMBL: ENSMUSP00000091475 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018810] [ENSMUST00000079702] [ENSMUST00000093943] [ENSMUST00000134585]

AlphaFold

P83917

PDB Structure

STRUCTURE OF THE CHROMATIN BINDING (CHROMO) DOMAIN FROM MOUSE MODIFIER PROTEIN 1, NMR, 26 STRUCTURES [SOLUTION NMR]
MOUSE HP1 (M31) C TERMINAL (SHADOW CHROMO) DOMAIN [SOLUTION NMR]
STRUCTURE OF THE CHROMODOMAIN FROM MOUSE HP1BETA IN COMPLEX WITH THE LYSINE 9-METHYL HISTONE H3 N-TERMINAL PEPTIDE, NMR, 25 STRUCTURES [SOLUTION NMR]
HP1 chromo shadow domain in complex with PXVXL motif of CAF-1 [SOLUTION NMR]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000018810
AA Change: D90G

PolyPhen 2 Score 0.679 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000018810
Gene: ENSMUSG00000018666
AA Change: D90G

Domain	Start	End	E-Value	Type
CHROMO	20	72	4.55e-20	SMART
low complexity region	86	109	N/A	INTRINSIC
Pfam:Chromo_shadow	115	138	8.2e-12	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000079702
AA Change: D90G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000078640
Gene: ENSMUSG00000018666
AA Change: D90G

Domain	Start	End	E-Value	Type
CHROMO	20	72	4.55e-20	SMART
low complexity region	86	109	N/A	INTRINSIC
Pfam:Chromo_shadow	115	147	5e-13	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000093943
AA Change: D90G

PolyPhen 2 Score 0.679 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000091475
Gene: ENSMUSG00000018666
AA Change: D90G

Domain	Start	End	E-Value	Type
CHROMO	20	72	4.55e-20	SMART
low complexity region	86	109	N/A	INTRINSIC
ChSh	111	173	4.83e-33	SMART
CHROMO	116	168	1.08e-3	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000134585
AA Change: D90G

PolyPhen 2 Score 0.679 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000137834
Gene: ENSMUSG00000018666
AA Change: D90G

Domain	Start	End	E-Value	Type
CHROMO	20	72	4.55e-20	SMART
low complexity region	86	109	N/A	INTRINSIC
Pfam:Chromo_shadow	115	138	8.2e-12	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.4%

Validation Efficiency

100% (66/66)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a highly conserved nonhistone protein, which is a member of the heterochromatin protein family . The protein is enriched in the heterochromatin and associated with centromeres. The protein has a single N-terminal chromodomain which can bind to histone proteins via methylated lysine residues, and a C-terminal chromo shadow-domain (CSD) which is responsible for the homodimerization and interaction with a number of chromatin-associated nonhistone proteins. The protein may play an important role in the epigenetic control of chromatin structure and gene expression. Several related pseudogenes are located on chromosomes 1, 3, and X. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jul 2008]
PHENOTYPE: An uncharacterized gene trap insertion does not result in an obvious phenotype during the observation period early in life, although abnormalities may still develop at older age. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	T	C	4: 53,084,520 (GRCm39)	M586V	probably benign	Het
Adam6b	G	A	12: 113,455,418 (GRCm39)	R745H	possibly damaging	Het
Afg3l1	A	G	8: 124,220,657 (GRCm39)	D462G	probably damaging	Het
Anapc1	T	A	2: 128,464,333 (GRCm39)	Q1721L	possibly damaging	Het
Arhgap11a	T	C	2: 113,665,107 (GRCm39)	Y497C	possibly damaging	Het
Bcl7b	T	G	5: 135,208,824 (GRCm39)	S96A	possibly damaging	Het
Birc6	T	C	17: 74,949,311 (GRCm39)	V3111A	probably damaging	Het
Cdkl3	T	C	11: 51,923,295 (GRCm39)	F524S	possibly damaging	Het
Cops7b	G	A	1: 86,517,031 (GRCm39)	G44R	probably damaging	Het
D130043K22Rik	A	G	13: 25,083,618 (GRCm39)	S1028G	probably benign	Het
Decr1	T	A	4: 15,945,351 (GRCm39)	M1L	probably benign	Het
Dmtn	T	C	14: 70,852,388 (GRCm39)	I167V	probably benign	Het
Dnah9	A	G	11: 65,750,309 (GRCm39)	L3932P	probably damaging	Het
Ece1	T	A	4: 137,672,452 (GRCm39)	I365N	probably damaging	Het
Efcab3	T	A	11: 104,928,695 (GRCm39)	M4815K	probably benign	Het
Exo5	T	C	4: 120,779,602 (GRCm39)	T88A	probably benign	Het
Frem3	T	C	8: 81,390,064 (GRCm39)	Y1772H	probably benign	Het
Gm5160	A	G	18: 14,557,931 (GRCm39)	N3D	possibly damaging	Het
Gm7138	T	A	10: 77,612,717 (GRCm39)	D21V	unknown	Het
Gm7298	C	A	6: 121,761,641 (GRCm39)		silent	Het
Gucy2e	A	G	11: 69,126,942 (GRCm39)	V177A	probably benign	Het
Islr	C	A	9: 58,064,256 (GRCm39)	G417V	unknown	Het
Kif13a	A	T	13: 46,914,813 (GRCm39)	M1458K	possibly damaging	Het
Mcm7	T	C	5: 138,163,347 (GRCm39)	D642G	possibly damaging	Het
Med24	A	T	11: 98,595,970 (GRCm39)	I941N	probably damaging	Het
Mrgprb8	C	T	7: 48,038,976 (GRCm39)	P216S	possibly damaging	Het
Myo5c	T	A	9: 75,150,054 (GRCm39)	V13D	probably damaging	Het
N4bp2	T	A	5: 65,965,551 (GRCm39)	I1200K	possibly damaging	Het
Naip6	G	A	13: 100,437,161 (GRCm39)	T454M	possibly damaging	Het
Nfkb1	T	C	3: 135,295,213 (GRCm39)	Y877C	probably damaging	Het
Nolc1	C	A	19: 46,071,471 (GRCm39)	S473R	unknown	Het
Nop16	A	C	13: 54,737,672 (GRCm39)		probably benign	Het
Nr3c2	T	C	8: 77,969,092 (GRCm39)	I959T	probably damaging	Het
Nup88	T	G	11: 70,834,941 (GRCm39)	K692N	probably benign	Het
Nvl	C	A	1: 180,922,619 (GRCm39)	G818V	probably benign	Het
Or1i2	G	T	10: 78,447,974 (GRCm39)	T167N	probably benign	Het
Or4k6	T	A	14: 50,475,376 (GRCm39)	E322V	probably benign	Het
Or4n4	A	G	14: 50,519,236 (GRCm39)	I158T	probably benign	Het
Or4s2b	T	C	2: 88,508,955 (GRCm39)	V245A	probably benign	Het
Or8b49	A	T	9: 38,506,405 (GRCm39)	D296V	probably damaging	Het
Or8k1	T	C	2: 86,047,200 (GRCm39)	I285V	probably damaging	Het
Plxnc1	G	A	10: 94,635,140 (GRCm39)	S1362L	probably damaging	Het
Ppfia2	C	T	10: 106,694,114 (GRCm39)	A696V	probably damaging	Het
Prl	A	G	13: 27,243,515 (GRCm39)	Y62C	probably damaging	Het
Rnf135	A	G	11: 80,089,762 (GRCm39)	D366G	probably damaging	Het
Rrp8	A	G	7: 105,384,244 (GRCm39)	L86P	probably damaging	Het
Rsph4a	T	C	10: 33,785,445 (GRCm39)	V452A	probably damaging	Het
Runx2	C	A	17: 44,950,570 (GRCm39)	V410L	probably benign	Het
Samd9l	T	C	6: 3,376,665 (GRCm39)	T199A	probably damaging	Het
Sik3	T	C	9: 46,120,365 (GRCm39)	S745P	probably damaging	Het
Slc35e1	T	A	8: 73,241,973 (GRCm39)	S250C	probably damaging	Het
Snx31	A	G	15: 36,537,698 (GRCm39)	F160S	probably damaging	Het
Spata31g1	A	G	4: 42,971,261 (GRCm39)	D198G	probably benign	Het
Stim2	T	A	5: 54,156,257 (GRCm39)	V11E	probably benign	Het
Tektl1	A	G	10: 78,588,306 (GRCm39)	V168A	probably damaging	Het
Tmem135	G	C	7: 88,797,186 (GRCm39)	L357V	probably benign	Het
Tox4	T	C	14: 52,524,318 (GRCm39)	S151P	probably damaging	Het
Trim34b	A	T	7: 103,985,319 (GRCm39)	D318V	probably damaging	Het
Ubtd1	T	C	19: 42,022,195 (GRCm39)	S156P	probably damaging	Het
Usp34	C	A	11: 23,434,143 (GRCm39)	L3240M		Het
Vmn1r56	T	C	7: 5,198,805 (GRCm39)	S271G	probably damaging	Het
Vps13b	T	C	15: 35,472,212 (GRCm39)		probably benign	Het
Vps13c	T	C	9: 67,853,110 (GRCm39)	F2401S	probably damaging	Het
Zbtb11	G	A	16: 55,802,637 (GRCm39)	V216I	probably damaging	Het
Zfp931	T	C	2: 177,709,589 (GRCm39)	T266A	possibly damaging	Het
Zfp956	A	G	6: 47,933,042 (GRCm39)	M106V	probably benign	Het

Other mutations in Cbx1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01145:Cbx1	APN	11	96,692,392 (GRCm39)	missense	probably benign	0.07
IGL02027:Cbx1	APN	11	96,692,315 (GRCm39)	missense	probably damaging	0.98
IGL03228:Cbx1	APN	11	96,691,631 (GRCm39)	utr 5 prime	probably benign
R1868:Cbx1	UTSW	11	96,693,554 (GRCm39)	missense	probably benign	0.18
R6406:Cbx1	UTSW	11	96,692,364 (GRCm39)	nonsense	probably null
R7696:Cbx1	UTSW	11	96,697,468 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- ACTAGGAAAGTCTAGCGATTGG -3'
(R):5'- AGTCCAGTATGGTAGTTCGTACTC -3'

Sequencing Primer
(F):5'- CTAGGAAAGTCTAGCGATTGGTTATC -3'
(R):5'- GCCTAGGCTTCTATGCAAGAC -3'

Posted On

2021-04-30